ClinVar Miner

Variants studied for Bloom syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
427 301 2228 1353 90 8 4135

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BLM 426 301 2224 1353 90 8 4130
BLM, FES, FURIN, HDDC3, MAN2A2, PRC1, RCCD1, UNC45A 0 0 2 0 0 0 2
AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ACTC1, ADAM10, ADAMTS7, ADAMTSL3, ADPGK, AEN, AFG2B, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANP32A, ANPEP, ANXA2, AP3B2, AP3S2, AP4E1, APH1B, AQP9, AQR, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARPP19, ATOSA, ATP8B4, AVEN, B2M, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BLOC1S6, BMF, BNC1, BNIP2, BTBD1, BUB1B, C15orf39, C15orf40, C15orf61, C15orf62, C2CD4A, C2CD4B, CA12, CALML4, CAPN3, CATSPER2, CCDC32, CCDC33, CCDC9B, CCNB2, CCNDBP1, CCPG1, CD276, CDAN1, CDIN1, CELF6, CEMIP, CEP152, CFAP161, CGNL1, CHAC1, CHP1, CHRM5, CHRNA3, CHRNA5, CHRNB4, CHST14, CIAO2A, CIB1, CIB2, CILP, CIMAP1C, CKMT1A, CKMT1B, CLK3, CLN6, CLPX, COMMD4, COPS2, CORO2B, COX5A, COXFA4L3, CPEB1, CPLX3, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CT62, CTDSPL2, CTSH, CTXN2, CYP11A1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DISP2, DLL4, DMXL2, DNAAF4, DNAJA4, DNAJC17, DPH6, DPP8, DTWD1, DUOX1, DUOX2, DUOXA1, DUOXA2, DUT, EDC3, EFL1, EHD4, EID1, EIF2AK4, EIF3J, ELL3, EMC4, EMC7, EPB42, ETFA, EXD1, FAH, FAM219B, FAM227B, FAM81A, FAM98B, FANCI, FBN1, FBXL22, FBXO22, FEM1B, FGF7, FOXB1, FRMD5, FSD2, FSIP1, GABPB1, GALK2, GANC, GATM, GCHFR, GCNT3, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA8A, GOLGA8B, GOLM2, GPR176, GRAMD2A, GREM1, GTF2A2, HACD3, HAPLN3, HAUS2, HCN4, HDC, HERC1, HEXA, HMG20A, HOMER2, HYKK, HYPK, ICE2, IDH2, IDH3A, IGDCC3, IGDCC4, IL16, IMP3, INO80, INSYN1, INTS14, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, ITPKA, IVD, JMJD7, KATNBL1, KBTBD13, KIF23, KIF7, KLHL25, KNL1, KNSTRN, LACTB, LARP6, LCMT2, LCTL, LDHAL6B, LEO1, LINC00928, LINC02694, LINC02915, LINGO1, LIPC, LMAN1L, LOXL1, LPCAT4, LRRC49, LRRC57, LTK, LYSMD2, MAN2C1, MAP1A, MAP2K1, MAP2K5, MAPDA, MAPK6, MAPKBP1, MEGF11, MEIS2, MESD, MESP1, MESP2, MEX3B, MFAP1, MFGE8, MGA, MINAR1, MINDY2, MIR184, MIR9-3, MNS1, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, MYZAP, NDUFAF1, NEDD4, NEIL1, NEO1, NGRN, NMB, NOP10, NOX5, NPTN, NR2E3, NRG4, NTRK3, NUSAP1, NUTM1, OAZ2, OIP5, ONECUT1, PAK6, PAQR5, PARP16, PARP6, PATL2, PCLAF, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGBD4, PHGR1, PIAS1, PIERCE2, PIF1, PIGB, PKM, PLA2G4B, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, PPCDC, PPIB, PPIP5K1, PPP1R14D, PRTG, PSMA4, PSTPIP1, PTPN9, PYGO1, RAB11A, RAB27A, RAB8B, RAD51, RAMAC, RASGRF1, RASGRP1, RASL12, RBPMS2, RCN2, REC114, RFX7, RHCG, RHOV, RLBP1, RMDN3, RNF111, RNU5A-1, RNU6-1, RORA, RPAP1, RPL4, RPLP1, RPP25, RPS17, RPS27L, RPUSD2, RSL24D1, RTF1, RYR3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SCG3, SCG5, SEC11A, SECISBP2L, SEMA4B, SEMA6D, SEMA7A, SENP8, SERF2, SERINC4, SH2D7, SH3GL3, SHC4, SHF, SIN3A, SKIC8, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC24A5, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLC51B, SLTM, SMAD3, SMAD6, SNAP23, SNAPC5, SNUPN, SNX1, SNX22, SNX33, SORD, SPESP1, SPG11, SPG21, SPINT1, SPPL2A, SPRED1, SPTBN5, SQOR, SRP14, ST20, ST20-MTHFS, STARD5, STARD9, STOML1, STRA6, STRC, TBC1D21, TBC1D2B, TCF12, TERB2, TEX9, TGM5, TGM7, THAP10, THBS1, THSD4, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM6SF1, TMC3, TMCO5A, TMED3, TMEM202, TMEM266, TMEM62, TMEM87A, TMOD2, TMOD3, TNFAIP8L3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM7, TSPAN3, TTBK2, TUBGCP4, TYRO3, UACA, UBAP1L, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, USP3, USP50, USP8, VPS13C, VPS18, VPS39, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH 0 0 1 0 0 0 1
ABHD2, ACAN, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, BLM, CIB1, CRTC3, FANCI, GDPGP1, HAPLN3, IDH2, IQGAP1, KIF7, LINC00928, MESP1, MESP2, MFGE8, MIR9-3, NGRN, PEX11A, PLIN1, POLG, RHCG, RLBP1, SEMA4B, TICRR, WDR93, ZNF710, ZNF774 1 0 0 0 0 0 1
BLM, LOC130057935 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 391 74 2051 1309 76 0 3901
Natera, Inc. 37 81 582 101 24 0 825
Baylor Genetics 43 95 18 0 0 0 156
Fulgent Genetics, Fulgent Genetics 18 39 83 5 0 0 145
Counsyl 5 81 35 4 0 0 125
Mendelics 11 4 40 23 1 0 79
Illumina Laboratory Services, Illumina 4 0 45 10 15 0 74
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 2 49 0 0 0 57
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 14 0 0 0 0 46
Myriad Genetics, Inc. 33 7 0 2 3 0 45
Revvity Omics, Revvity 15 6 16 0 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 13 12 0 31
Genome-Nilou Lab 0 1 11 3 12 0 27
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 25 0 27
3billion 5 1 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Pathway Genomics 3 0 1 2 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 1 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Otogenetics 2 3 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
OMIM 4 0 0 0 0 0 4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
Pars Genome Lab 0 0 2 1 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 2 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Helix 0 0 2 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Greehey Children's Cancer Research Institute, UT Health San Antonio 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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